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GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy
We describe a consanguineous family in which two brothers were affected by childhood onset spastic ataxia with optic atrophy and loss of motor and language skills. Through a combination of homozygosity mapping and whole‐genome sequencing, we identified a homozygous copy number variant in GLS as the...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817843/ https://www.ncbi.nlm.nih.gov/pubmed/29468182 http://dx.doi.org/10.1002/acn3.522 |